ClinVar Miner

List of variants in gene NPHP1 reported as likely benign for Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 334
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser) rs373915635 0.00029
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=) rs144217506 0.00021
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001128178.3(NPHP1):c.771+33G>A rs751388694 0.00017
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) rs186950965 0.00014
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.156A>G (p.Leu52=) rs759699517 0.00007
NM_001128178.3(NPHP1):c.1959C>T (p.Asp653=) rs751440951 0.00006
NM_001128178.3(NPHP1):c.258T>C (p.His86=) rs370355360 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001128178.3(NPHP1):c.772-13T>C rs767813102 0.00006
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=) rs567306113 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001128178.3(NPHP1):c.800C>T (p.Thr267Met) rs141907218 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) rs200521790 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.2010T>C (p.Gly670=) rs759211123 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128178.3(NPHP1):c.1083+7T>A rs773132396 0.00002
NM_001128178.3(NPHP1):c.1269+8C>T rs748875496 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.329+10C>A rs764482387 0.00002
NM_001128178.3(NPHP1):c.459C>T (p.Thr153=) rs562594554 0.00002
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=) rs775869913 0.00002
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001128178.3(NPHP1):c.1083+20A>C rs767659244 0.00001
NM_001128178.3(NPHP1):c.1270-20A>G rs754198831 0.00001
NM_001128178.3(NPHP1):c.1392A>G (p.Glu464=) rs369856527 0.00001
NM_001128178.3(NPHP1):c.1422C>T (p.Ser474=) rs1160667484 0.00001
NM_001128178.3(NPHP1):c.1529+20T>G rs1311670481 0.00001
NM_001128178.3(NPHP1):c.1545A>G (p.Thr515=) rs1199701715 0.00001
NM_001128178.3(NPHP1):c.1643-8C>A rs1328392742 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.192A>G (p.Gln64=) rs772522565 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.288G>T (p.Leu96=) rs758059337 0.00001
NM_001128178.3(NPHP1):c.345T>A (p.Thr115=) rs998559099 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=) rs1253817401 0.00001
NM_001128178.3(NPHP1):c.522+11T>G rs374090144 0.00001
NM_001128178.3(NPHP1):c.651A>G (p.Gln217=) rs201107818 0.00001
NM_001128178.3(NPHP1):c.693G>A (p.Val231=) rs746229585 0.00001
NM_001128178.3(NPHP1):c.729-19T>C rs374563008 0.00001
NM_001128178.3(NPHP1):c.771+175T>C rs905647921 0.00001
NM_001128178.3(NPHP1):c.771+18T>A rs1446639138 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.771+90T>C rs145349438 0.00001
NM_001128178.3(NPHP1):c.783T>G (p.Thr261=) rs148014935 0.00001
NM_001128178.3(NPHP1):c.963G>A (p.Ser321=) rs533125951 0.00001
NC_000002.11:g.(?_110922097)_(110962545_?)dup
NM_000272.3:c.205-?_*455+?dup
NM_001128178.3(NPHP1):c.1005T>C (p.Cys335=)
NM_001128178.3(NPHP1):c.1023A>G (p.Pro341=)
NM_001128178.3(NPHP1):c.1059C>T (p.Arg353=)
NM_001128178.3(NPHP1):c.1066C>T (p.Leu356=)
NM_001128178.3(NPHP1):c.1083+11T>A
NM_001128178.3(NPHP1):c.1083+11T>C
NM_001128178.3(NPHP1):c.1083+12G>A
NM_001128178.3(NPHP1):c.111A>G (p.Leu37=) rs2104714862
NM_001128178.3(NPHP1):c.1159-18dup
NM_001128178.3(NPHP1):c.1159-20T>C rs990050723
NM_001128178.3(NPHP1):c.1159-8C>A
NM_001128178.3(NPHP1):c.1164T>C (p.Thr388=)
NM_001128178.3(NPHP1):c.1170C>A (p.Ile390=)
NM_001128178.3(NPHP1):c.1173A>G (p.Leu391=)
NM_001128178.3(NPHP1):c.1176A>G (p.Pro392=) rs2104497160
NM_001128178.3(NPHP1):c.117C>T (p.Pro39=)
NM_001128178.3(NPHP1):c.1197C>T (p.Cys399=)
NM_001128178.3(NPHP1):c.1251A>G (p.Gly417=)
NM_001128178.3(NPHP1):c.1269+15A>G
NM_001128178.3(NPHP1):c.1269+9G>C rs13414551
NM_001128178.3(NPHP1):c.1269+9G>T
NM_001128178.3(NPHP1):c.1270-12C>G
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1270-14G>T
NM_001128178.3(NPHP1):c.1270-19T>C
NM_001128178.3(NPHP1):c.1308G>A (p.Val436=)
NM_001128178.3(NPHP1):c.1314T>C (p.Leu438=)
NM_001128178.3(NPHP1):c.1320T>G (p.Leu440=)
NM_001128178.3(NPHP1):c.1332T>C (p.Ser444=)
NM_001128178.3(NPHP1):c.1352+12A>G
NM_001128178.3(NPHP1):c.1352+14A>G
NM_001128178.3(NPHP1):c.1352+16A>G
NM_001128178.3(NPHP1):c.1352+17T>C
NM_001128178.3(NPHP1):c.1353-12A>G
NM_001128178.3(NPHP1):c.1353-16T>C
NM_001128178.3(NPHP1):c.1353-20T>A
NM_001128178.3(NPHP1):c.1353-4A>C
NM_001128178.3(NPHP1):c.1353-8T>G
NM_001128178.3(NPHP1):c.1359T>C (p.Tyr453=) rs756580864
NM_001128178.3(NPHP1):c.1362G>A (p.Glu454=) rs2104483951
NM_001128178.3(NPHP1):c.1374T>C (p.Asn458=)
NM_001128178.3(NPHP1):c.1386T>A (p.Pro462=)
NM_001128178.3(NPHP1):c.1389T>C (p.Tyr463=)
NM_001128178.3(NPHP1):c.1398T>C (p.Gly466=)
NM_001128178.3(NPHP1):c.1407G>A (p.Val469=) rs1284022173
NM_001128178.3(NPHP1):c.141A>G (p.Gln47=)
NM_001128178.3(NPHP1):c.1429+14G>A
NM_001128178.3(NPHP1):c.1429+16_1429+20del
NM_001128178.3(NPHP1):c.1429+9C>T
NM_001128178.3(NPHP1):c.143+15A>G
NM_001128178.3(NPHP1):c.143+19T>C
NM_001128178.3(NPHP1):c.143+20A>G
NM_001128178.3(NPHP1):c.143+7T>C
NM_001128178.3(NPHP1):c.143+7T>G
NM_001128178.3(NPHP1):c.1430-15G>T
NM_001128178.3(NPHP1):c.1430-20C>G rs760121969
NM_001128178.3(NPHP1):c.1430-20del
NM_001128178.3(NPHP1):c.1430-5A>G
NM_001128178.3(NPHP1):c.1430-8C>G rs750113370
NM_001128178.3(NPHP1):c.144-11T>C
NM_001128178.3(NPHP1):c.144-11T>G rs1448732187
NM_001128178.3(NPHP1):c.144-8T>C
NM_001128178.3(NPHP1):c.1485A>G (p.Leu495=) rs746027698
NM_001128178.3(NPHP1):c.1488G>C (p.Val496=)
NM_001128178.3(NPHP1):c.1492C>T (p.Leu498=)
NM_001128178.3(NPHP1):c.1503G>A (p.Leu501=)
NM_001128178.3(NPHP1):c.1527A>G (p.Leu509=)
NM_001128178.3(NPHP1):c.1529+13T>A
NM_001128178.3(NPHP1):c.1529+16T>C
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.1530-20A>G rs773398593
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1536G>C (p.Leu512=)
NM_001128178.3(NPHP1):c.1548A>G (p.Leu516=)
NM_001128178.3(NPHP1):c.1569T>C (p.Ile523=)
NM_001128178.3(NPHP1):c.1605T>C (p.Asp535=)
NM_001128178.3(NPHP1):c.1623G>A (p.Arg541=)
NM_001128178.3(NPHP1):c.162G>A (p.Gln54=)
NM_001128178.3(NPHP1):c.1630T>C (p.Leu544=)
NM_001128178.3(NPHP1):c.1638T>C (p.Ser546=)
NM_001128178.3(NPHP1):c.1642+10C>T
NM_001128178.3(NPHP1):c.1642+8G>T
NM_001128178.3(NPHP1):c.1642+9G>A
NM_001128178.3(NPHP1):c.1642+9G>C
NM_001128178.3(NPHP1):c.1643-14G>A
NM_001128178.3(NPHP1):c.1643-7A>T
NM_001128178.3(NPHP1):c.1643-8C>T
NM_001128178.3(NPHP1):c.1643-9G>T
NM_001128178.3(NPHP1):c.1647A>G (p.Leu549=)
NM_001128178.3(NPHP1):c.1659C>T (p.Pro553=)
NM_001128178.3(NPHP1):c.1671C>T (p.Thr557=) rs2104428797
NM_001128178.3(NPHP1):c.1677C>T (p.Pro559=)
NM_001128178.3(NPHP1):c.1689G>A (p.Glu563=)
NM_001128178.3(NPHP1):c.1695T>C (p.Pro565=)
NM_001128178.3(NPHP1):c.1716+10A>G
NM_001128178.3(NPHP1):c.1716+12G>T
NM_001128178.3(NPHP1):c.1716+17G>A
NM_001128178.3(NPHP1):c.1716+18C>T
NM_001128178.3(NPHP1):c.1716+20A>G
NM_001128178.3(NPHP1):c.1717-12T>C
NM_001128178.3(NPHP1):c.1717-6C>T
NM_001128178.3(NPHP1):c.1717-8C>T
NM_001128178.3(NPHP1):c.1722G>T (p.Ser574=)
NM_001128178.3(NPHP1):c.1734A>G (p.Lys578=)
NM_001128178.3(NPHP1):c.1755A>C (p.Ser585=)
NM_001128178.3(NPHP1):c.1761+14C>T
NM_001128178.3(NPHP1):c.1761+15T>C
NM_001128178.3(NPHP1):c.1761+19C>T
NM_001128178.3(NPHP1):c.1761+20A>G
NM_001128178.3(NPHP1):c.1761+7T>C
NM_001128178.3(NPHP1):c.1762-12G>A
NM_001128178.3(NPHP1):c.1762-12G>C
NM_001128178.3(NPHP1):c.1762-15G>A rs1023737876
NM_001128178.3(NPHP1):c.1762-19G>T
NM_001128178.3(NPHP1):c.1764A>G (p.Arg588=)
NM_001128178.3(NPHP1):c.1773G>A (p.Glu591=)
NM_001128178.3(NPHP1):c.1788G>A (p.Thr596=)
NM_001128178.3(NPHP1):c.1788G>T (p.Thr596=)
NM_001128178.3(NPHP1):c.1806T>C (p.His602=)
NM_001128178.3(NPHP1):c.1827C>T (p.Leu609=)
NM_001128178.3(NPHP1):c.1839C>T (p.Arg613=)
NM_001128178.3(NPHP1):c.1842A>G (p.Leu614=)
NM_001128178.3(NPHP1):c.1845C>T (p.Pro615=) rs1559039003
NM_001128178.3(NPHP1):c.1848A>C (p.Pro616=)
NM_001128178.3(NPHP1):c.1854G>A (p.Arg618=)
NM_001128178.3(NPHP1):c.1866A>G (p.Glu622=)
NM_001128178.3(NPHP1):c.186T>C (p.Ala62=)
NM_001128178.3(NPHP1):c.1881A>G (p.Ala627=) rs1157663897
NM_001128178.3(NPHP1):c.1882C>A (p.Arg628=) rs141686332
NM_001128178.3(NPHP1):c.1884G>A (p.Arg628=)
NM_001128178.3(NPHP1):c.1899T>C (p.Thr633=) rs2104409055
NM_001128178.3(NPHP1):c.1923A>G (p.Glu641=)
NM_001128178.3(NPHP1):c.1926C>T (p.Asn642=)
NM_001128178.3(NPHP1):c.1929G>A (p.Gln643=) rs1553479835
NM_001128178.3(NPHP1):c.1948C>T (p.Leu650=) rs935465878
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.1950G>C (p.Leu650=)
NM_001128178.3(NPHP1):c.1950G>T (p.Leu650=)
NM_001128178.3(NPHP1):c.1953A>T (p.Ser651=)
NM_001128178.3(NPHP1):c.1995C>T (p.Thr665=)
NM_001128178.3(NPHP1):c.1998T>C (p.Tyr666=)
NM_001128178.3(NPHP1):c.2017A>C (p.Arg673=)
NM_001128178.3(NPHP1):c.2031G>C (p.Val677=)
NM_001128178.3(NPHP1):c.204+13G>A
NM_001128178.3(NPHP1):c.204+13G>T
NM_001128178.3(NPHP1):c.205-12A>G
NM_001128178.3(NPHP1):c.205-4A>G
NM_001128178.3(NPHP1):c.205-9C>T rs765267939
NM_001128178.3(NPHP1):c.213A>G (p.Glu71=)
NM_001128178.3(NPHP1):c.231C>T (p.Asn77=)
NM_001128178.3(NPHP1):c.255G>A (p.Glu85=)
NM_001128178.3(NPHP1):c.261T>C (p.Thr87=)
NM_001128178.3(NPHP1):c.279C>G (p.Thr93=)
NM_001128178.3(NPHP1):c.285A>G (p.Gln95=)
NM_001128178.3(NPHP1):c.286C>T (p.Leu96=)
NM_001128178.3(NPHP1):c.288G>A (p.Leu96=) rs758059337
NM_001128178.3(NPHP1):c.291G>A (p.Gln97=) rs2104611813
NM_001128178.3(NPHP1):c.30C>G (p.Leu10=)
NM_001128178.3(NPHP1):c.327T>C (p.Thr109=)
NM_001128178.3(NPHP1):c.327T>G (p.Thr109=)
NM_001128178.3(NPHP1):c.329+13T>G
NM_001128178.3(NPHP1):c.329+17C>T
NM_001128178.3(NPHP1):c.329+18C>T
NM_001128178.3(NPHP1):c.329+19T>G
NM_001128178.3(NPHP1):c.330-11A>G
NM_001128178.3(NPHP1):c.330-20C>T rs1296325944
NM_001128178.3(NPHP1):c.330-4G>T rs774162169
NM_001128178.3(NPHP1):c.339A>T (p.Ala113=)
NM_001128178.3(NPHP1):c.37C>T (p.Leu13=)
NM_001128178.3(NPHP1):c.39G>A (p.Leu13=) rs1553498753
NM_001128178.3(NPHP1):c.411G>A (p.Glu137=)
NM_001128178.3(NPHP1):c.417A>G (p.Glu139=)
NM_001128178.3(NPHP1):c.468A>G (p.Glu156=)
NM_001128178.3(NPHP1):c.471C>T (p.Tyr157=)
NM_001128178.3(NPHP1):c.477T>G (p.Ala159=)
NM_001128178.3(NPHP1):c.492T>C (p.Thr164=)
NM_001128178.3(NPHP1):c.522+11T>C
NM_001128178.3(NPHP1):c.522+20_522+21del
NM_001128178.3(NPHP1):c.522+8G>A
NM_001128178.3(NPHP1):c.523-11T>C
NM_001128178.3(NPHP1):c.523-13G>A
NM_001128178.3(NPHP1):c.523-17C>T rs2104573743
NM_001128178.3(NPHP1):c.523-18A>G
NM_001128178.3(NPHP1):c.528G>A (p.Gly176=)
NM_001128178.3(NPHP1):c.528G>C (p.Gly176=) rs1682883111
NM_001128178.3(NPHP1):c.561T>C (p.Asp187=)
NM_001128178.3(NPHP1):c.582T>C (p.Asp194=)
NM_001128178.3(NPHP1):c.591A>G (p.Gly197=)
NM_001128178.3(NPHP1):c.594T>C (p.Asn198=)
NM_001128178.3(NPHP1):c.606T>C (p.Val202=)
NM_001128178.3(NPHP1):c.624+10G>A
NM_001128178.3(NPHP1):c.624+11del rs763000358
NM_001128178.3(NPHP1):c.624+14T>A
NM_001128178.3(NPHP1):c.624+17G>T
NM_001128178.3(NPHP1):c.624+18C>G
NM_001128178.3(NPHP1):c.625-8T>C
NM_001128178.3(NPHP1):c.639A>G (p.Glu213=)
NM_001128178.3(NPHP1):c.669C>A (p.Gly223=)
NM_001128178.3(NPHP1):c.684A>G (p.Val228=) rs138705625
NM_001128178.3(NPHP1):c.69+11G>A
NM_001128178.3(NPHP1):c.69+14G>A
NM_001128178.3(NPHP1):c.69+15T>C
NM_001128178.3(NPHP1):c.69+18del
NM_001128178.3(NPHP1):c.69+7T>C
NM_001128178.3(NPHP1):c.70-8C>T rs370573707
NM_001128178.3(NPHP1):c.70-9T>C
NM_001128178.3(NPHP1):c.714A>G (p.Ala238=)
NM_001128178.3(NPHP1):c.720T>C (p.Val240=)
NM_001128178.3(NPHP1):c.720T>G (p.Val240=)
NM_001128178.3(NPHP1):c.728+17G>A
NM_001128178.3(NPHP1):c.728+8del rs863224357
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.728+9G>C
NM_001128178.3(NPHP1):c.729-4C>G rs1682596294
NM_001128178.3(NPHP1):c.735T>C (p.Asp245=)
NM_001128178.3(NPHP1):c.771+102A>T
NM_001128178.3(NPHP1):c.771+108C>T
NM_001128178.3(NPHP1):c.771+111G>A rs2104559507
NM_001128178.3(NPHP1):c.771+145C>T
NM_001128178.3(NPHP1):c.771+178C>G
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+180C>T
NM_001128178.3(NPHP1):c.771+182T>G
NM_001128178.3(NPHP1):c.771+185_771+186insA rs1682570213
NM_001128178.3(NPHP1):c.771+186T>C
NM_001128178.3(NPHP1):c.771+187_771+188insG
NM_001128178.3(NPHP1):c.771+188T>G rs2104558917
NM_001128178.3(NPHP1):c.771+24T>C
NM_001128178.3(NPHP1):c.771+27T>C
NM_001128178.3(NPHP1):c.771+3G>T
NM_001128178.3(NPHP1):c.771+54G>A
NM_001128178.3(NPHP1):c.771+58C>A rs367600757
NM_001128178.3(NPHP1):c.771+66G>A
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.772-8G>A
NM_001128178.3(NPHP1):c.780C>T (p.Asn260=)
NM_001128178.3(NPHP1):c.789T>C (p.Asp263=)
NM_001128178.3(NPHP1):c.792G>A (p.Val264=)
NM_001128178.3(NPHP1):c.822G>T (p.Gly274=)
NM_001128178.3(NPHP1):c.834C>T (p.Ser278=)
NM_001128178.3(NPHP1):c.837G>A (p.Thr279=)
NM_001128178.3(NPHP1):c.840C>T (p.Leu280=)
NM_001128178.3(NPHP1):c.843A>G (p.Ser281=)
NM_001128178.3(NPHP1):c.859+7C>T
NM_001128178.3(NPHP1):c.859+8G>A rs765856771
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001128178.3(NPHP1):c.860-11G>T
NM_001128178.3(NPHP1):c.860-12T>C rs1326341540
NM_001128178.3(NPHP1):c.860-19G>A
NM_001128178.3(NPHP1):c.882C>T (p.Tyr294=) rs369977541
NM_001128178.3(NPHP1):c.894A>G (p.Pro298=)
NM_001128178.3(NPHP1):c.897G>A (p.Glu299=) rs1277227397
NM_001128178.3(NPHP1):c.900C>T (p.Leu300=)
NM_001128178.3(NPHP1):c.90G>A (p.Glu30=)
NM_001128178.3(NPHP1):c.924A>G (p.Arg308=)
NM_001128178.3(NPHP1):c.942T>G (p.Ala314=)
NM_001128178.3(NPHP1):c.954+11T>A
NM_001128178.3(NPHP1):c.954+11T>G
NM_001128178.3(NPHP1):c.954+16A>G
NM_001128178.3(NPHP1):c.954+17T>A
NM_001128178.3(NPHP1):c.954+17T>G
NM_001128178.3(NPHP1):c.955-12T>C
NM_001128178.3(NPHP1):c.955-14A>G
NM_001128178.3(NPHP1):c.955-15T>C
NM_001128178.3(NPHP1):c.955-15T>G
NM_001128178.3(NPHP1):c.960G>A (p.Arg320=)
NM_001128178.3(NPHP1):c.97C>T (p.Leu33=)
NM_001128178.3(NPHP1):c.993A>G (p.Thr331=)
NM_001128178.3(NPHP1):c.994T>C (p.Leu332=)
NM_001128178.3(NPHP1):c.996A>G (p.Leu332=)
NM_001128178.3(NPHP1):c.9G>T (p.Ala3=)

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